CCDC18

coiled-coil domain containing 18

Basic information

Region (hg38): 1:93179919-93278730

Links

ENSG00000122483 ∙ NCBI:343099 ∙ ∙ HGNC:30370 ∙ Uniprot:Q5T9S5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC18 gene.

• not_specified (145 variants)
• CCDC18-related_disorder (22 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001378204.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	5	11
missense			142	7	3	152
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	142	13	8

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC18	protein_coding	protein_coding	ENST00000370276	29	98812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.96e-37	0.00554	124444	1	349	124794	0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	587	708	0.830	0.0000333	10021
Missense in Polyphen		173	193.47	0.89417		3166
Synonymous	0.952	226	245	0.923	0.0000116	2519
Loss of Function	1.80	67	84.9	0.789	0.00000413	1147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00233	0.00231
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.00271	0.00251
Finnish	0.000700	0.000696
European (Non-Finnish)	0.000782	0.000759
Middle Eastern	0.00271	0.00251
South Asian	0.00510	0.00478
Other	0.00124	0.00115

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0956

Haploinsufficiency Scores

• pHI: 0.105
• ghis: 0.563

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0215

Mouse Genome Informatics

• Gene name: Ccdc18